Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438163 | SCV000530843 | likely benign | not specified | 2016-08-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000711973 | SCV000842384 | benign | not provided | 2018-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087126 | SCV001001097 | likely benign | Charcot-Marie-Tooth disease axonal type 2F | 2019-12-31 | criteria provided, single submitter | clinical testing |